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| Predicate | Object |
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| rdf:type | |
| calbc:hasCorrelation | |
| skos:definition |
JABL: Duplication of the long arm of chromosome 2 with psychomotor retardation and multiple anomalies consisting of unusual facial appearance, clinodactyly, short neck, short toenails, congenital heart defects, anomalies of the genitourinary system, and other abnormalities.
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| skos:inScheme | |
| skos:broader | |
| skos-xl:prefLabel | |
| skos-xl:altLabel | |
| umls:relation |
http://linkedlifedata.com/resource/umls/relation/R01048534,
http://linkedlifedata.com/resource/umls/relation/R01048535,
http://linkedlifedata.com/resource/umls/relation/R128714058,
http://linkedlifedata.com/resource/umls/relation/R128714059,
http://linkedlifedata.com/resource/umls/relation/R03246966
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